Document Detail


Genetics of sporadic amyotrophic lateral sclerosis.
MedLine Citation:
PMID:  17911166     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disease characterized clinically by rapidly progressive paralysis leading ultimately to death from respiratory failure. There is substantial evidence suggesting that ALS is a heritable disease, and a number of genes have been identified as being causative in familial ALS. In contrast, the genetics of the much commoner sporadic form of the disease is poorly understood and no single gene has been definitively shown to increase the risk of developing ALS. In this review, we discuss the genetic evidence for each candidate gene that has been putatively associated with increased risk of sporadic ALS. We also review whole genome association studies of ALS and discuss the potential of this methodology for identifying genes relevant to motor neuron degeneration.
Authors:
J C Schymick; K Talbot; B J Traynor
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Publication Detail:
Type:  Journal Article; Research Support, N.I.H., Intramural; Review    
Journal Detail:
Title:  Human molecular genetics     Volume:  16 Spec No. 2     ISSN:  0964-6906     ISO Abbreviation:  Hum. Mol. Genet.     Publication Date:  2007 Oct 
Date Detail:
Created Date:  2007-10-03     Completed Date:  2007-12-06     Revised Date:  2011-07-19    
Medline Journal Info:
Nlm Unique ID:  9208958     Medline TA:  Hum Mol Genet     Country:  England    
Other Details:
Languages:  eng     Pagination:  R233-42     Citation Subset:  IM    
Affiliation:
Department of Physiology, Anatomy and Genetics, University of Oxford, Oxford OX1 3QX, UK.
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MeSH Terms
Descriptor/Qualifier:
Amyotrophic Lateral Sclerosis / genetics*
Aryldialkylphosphatase / genetics
Cyclic AMP Response Element-Binding Protein / genetics
DNA-(Apurinic or Apyrimidinic Site) Lyase / genetics
Endosomal Sorting Complexes Required for Transport
Histocompatibility Antigens Class I / genetics
Humans
Intercellular Signaling Peptides and Proteins / genetics
Intermediate Filament Proteins / genetics
Membrane Glycoproteins / genetics
Membrane Proteins / genetics
Microtubule-Associated Proteins / genetics
Nerve Degeneration / genetics
Nerve Tissue Proteins / genetics
Neurofilament Proteins / genetics
RNA-Binding Proteins / genetics
Ribonuclease, Pancreatic / genetics
SMN Complex Proteins
Superoxide Dismutase / genetics
Vascular Endothelial Growth Factor A / genetics
Chemical
Reg. No./Substance:
0/CHMP2B protein, human; 0/Cyclic AMP Response Element-Binding Protein; 0/Endosomal Sorting Complexes Required for Transport; 0/GRN protein, human; 0/HFE protein, human; 0/Histocompatibility Antigens Class I; 0/Intercellular Signaling Peptides and Proteins; 0/Intermediate Filament Proteins; 0/Membrane Glycoproteins; 0/Membrane Proteins; 0/Microtubule-Associated Proteins; 0/Nerve Tissue Proteins; 0/Neurofilament Proteins; 0/RNA-Binding Proteins; 0/SMN Complex Proteins; 0/VEGFA protein, human; 0/Vascular Endothelial Growth Factor A; 0/neurofilament protein L; 0/peripherin; 144198-36-7/dynactin; EC 1.15.1.-/superoxide dismutase 1; EC 1.15.1.1/Superoxide Dismutase; EC 3.1.27.-/angiogenin; EC 3.1.27.5/Ribonuclease, Pancreatic; EC 3.1.8.1/Aryldialkylphosphatase; EC 4.2.99.18/DNA-(Apurinic or Apyrimidinic Site) Lyase

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine


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